RS118203532 TSC1

Health Risk Chr 9:132906117 snv missense variant
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Associated Conditions
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Primitive neuroectodermal tumor
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Primitive neuroectodermal tumor
Tuberous sclerosis 1
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
0.1%
Other Variants in TSC1
rs118203595 rs118203447 rs118203597 rs118203388 rs118203657 rs118203426 rs118203396 rs118203334 rs75820036 rs200827913
Ask Dr. Hemsworth about this variant